Publications by authors named "C Casasnovas-Pons"
Article Synopsis
- The study focused on the prevalence of ataxia and hereditary spastic paraplegia in Spain, involving 1933 patients from various regions between 2018 and 2019.
- Results showed that ataxia was more prevalent (70.9%) compared to hereditary spastic paraplegia (29.1%), with overall prevalence rates of 5.48 and 2.24 cases per 100,000 population, respectively.
- A significant portion of patients (47.6%) lacked a genetic diagnosis, highlighting the need for improved healthcare resources and awareness for these rare disorders.
Article Synopsis
- - The study aimed to assess the prevalence of ataxia and hereditary spastic paraplegia in Spain during 2019, finding 1,809 affected patients with an average age of 53.64 years.
- - Results showed that 70.9% of patients had ataxia, with prevalence rates of 5.48 cases per 100,000, while hereditary spastic paraplegia had a prevalence of 2.24 cases per 100,000.
- - The study highlighted that genetic causes were unidentified in nearly half of the patients, emphasizing the need for better healthcare resources and awareness about these neurodegenerative disorders.
Myasthenia gravis (MG) is an autoimmune disease caused by antibodies targeting the neuromuscular junction of skeletal muscles. Triple-seronegative MG (tSN-MG, without detectable AChR, MuSK and LRP4 antibodies), which accounts for ~10% of MG patients, presents a serious gap in MG diagnosis and complicates differential diagnosis of similar disorders. Several AChR antibody positive patients (AChR-MG) also have antibodies against titin, usually detected by ELISA.
View Article and Find Full Text PDFSeronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of muscle specific kinase (MuSK) antibodies undetectable by radioimmunoassay. We tested 633 triple-seronegative MG patients' sera from 13 countries, detecting 13% as positive.
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